BARD1基因多态与神经母细胞瘤风险的相关性:一个元分析
Shan Chen1, Di Xu2, Rongdong Huang3
1Department of Laboratory, Fuzhou Second General Hospital, Fuzhou, Fujian, China.
Nucleosides, nucleotides & nucleic acids
|April 15, 2024
概括
与BRCA1相关的RING域蛋白1 (BARD1) 基因多态可能会影响神经母细胞瘤 (NB) 风险. 像rs6435862,rs3768716,rs17487792和rs7587476这样的特定变异似乎增加了NB的易感性,特别是在高加索人群中.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 神经母细胞瘤 (NB) 是一个重要的儿科癌症.
- 遗传变异对NB易感性的作用是一个活跃的研究领域.
- 已经研究了BRCA1关联的RING域蛋白1 (BARD1) 基因多态性,以确定它们与NB的潜在联系.
研究的目的:
- 系统地评估BARD1基因多态和神经母细胞瘤 (NB) 易感性之间的关联.
- 为了澄清关于BARD1多态和NB风险的有争议的发现.
- 分析特定BARD1变异在不同遗传模型和种族的影响.
主要方法:
- 在主要数据库 (PubMed, Web of Science, Embase, CNKI) 进行了全面的文献搜索,截至2023年3月5日.
- 进行了元分析,使用固定或随机效应模型来计算赔率比率 (OR) 和95%置信区间 (95%CI).
- 根据种族 (高加索和亚洲人群) 进行了子组分析.
主要成果:
- 四种BARD1多态 (rs6435862,rs3768716,rs17487792,rs7587476) 与各种遗传模型中的NB风险增加有关,特别是在白种人中.
- 在最初的分析中,rs7585356 G>A变体显示出对NB的保护作用,但在邦费罗尼校正后,这种关联消失了.
- 种族子组分析显示,高加索人有显著的关联,亚洲人对特定变体和模型有一些一致的发现,尽管邦费罗尼校正影响了整体意义.
结论:
- BARD1基因多态,特别是rs6435862,rs3768716,rs17487792和rs7587476,显示出与神经母细胞瘤易感性的潜在显著关联.
- 观察到的关联因种族和遗传模型而异,在严格的统计纠正后,一些失去了意义.
- 进一步进行广泛和精心设计的研究至关重要,以最终证实这些发现,并阐明BARD1在神经母细胞瘤中的作用.
相关概念视频
01:20The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
01:49Probability Laws
40.8K
Overview
40.8K
01:05Single Nucleotide Polymorphisms-SNPs
15.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.0K
01:35Pedigree Analysis
84.2K
Overview
84.2K
01:11Genome-wide Association Studies-GWAS
13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.4K
03:18Non-LTR Retrotransposons
11.5K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.5K